Leigh syndrome is a fatal disorder that causes progressive neurodegeneration in mostly young kids. It was discovered in 1951 by Denis Leigh who originally named it Necrotizing Encephalomyelopathy. Leigh originally classified it based on phenotypes found in a boy who had normal development until the age of 6 months. After this the boy showed various phenotypes including optic atrophy, deafness, and bilateral spasticity. The neurological phenotypes displayed in the boy were: neuron degeneration, gliosis of thalamus, midbrain, medulla, pons, and spinal cord. Leigh believed that the disorder was caused by a lack of thiamine in the boys system (Leigh, 1951).
Leigh syndrome is defined by focal, central nervous system bilateral legions in areas such as the thalamus, spinal cord, brainstem, or cerebellum (Gerards et al., 2013). Involvement of the disorder in the brainstem causes respiratory failure in 64-72% of patients with the disorder. Other effects the central nervous system may cause ataxia, failure to thrive, hypertonia, seizures, psychomotor retardation, or dystonia. There are also various other non-neurological symptoms of Leigh syndrome such as, short stature, hypertrichosis, gastrological problems, and cardiac
…show more content…
This includes mtDNA gene replacement currently being studied in primates. This therapy is when the spindle-chromosomal complex is transferred from an egg to an enucleated mitochondrial-replete egg. The resulting egg contains nuclear DNA from the spindle donor egg and mtDNA from the cytoplast donor egg, bypassing the maternal transfer of mtDNA. In the future this mtDNA gene replacement therapy may be used to prevent the transmission of mutated mtDNA (Tachibana et al., 2009). This can be applied to Leigh syndrome if mothers know that they are heteroplasmic for the mtDNA mutations causing Leigh syndrome, or have adult onset Leigh
A summary of the case details (provide the circumstances surrounding the case, who, what, when, how)
The Daniel Pelka serious case review is one of many that are conducted around the United Kingdom every year. A serious case review is a local enquiry into the death or serious injury of a child, where abuse or neglect are known or suspected. These are conducted by the Local Safeguarding Children Boards; with the main focus being on what lessons can be learnt locally to prevent this from happening again (Brandon, Bailey, Belderson, 2010). In this textual analysis we will be looking back at previous case reviews including Jasmine Beckford and Baby P. We will then look at what recommendations have been made and use the Peka case to see weather we have learned from our previous mistakes or are we still in the same position now as we where then.
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
According to the BBC, Charlotte Wyatt was an infant born three months premature in October 2003. This premature birth has caused complications including severe brain damage. The medical professionals caring for Charlotte acknowledged this, predicting that she would live no more than a few months, regardless of medical care. Charlotte remained living under hospital care as she received medical treatment, including things like constant oxygen supply, and at this point, she did not respond to stimulation but appeared to be suffering significant pain. She continued to outlive doctor’s predictions as these conditions continued for months.
Histological examination shows severe degeneration of Purkinje cells, reduction in the number of cells in the molecular and granular layers of the cerebellar cortex, severe loss of the number of cells in the pontine nuclei and olives, and demyelination of the middle cerebellar peduncle. The cerebellar nuclei are well preserved. The tegmentum of the pons, the corticospinal tracts, and the restiform body are also usually unaffected. In clinical cases involving extrapyramidal symptoms, degenerative changes in the striatum, espec...
The family is scared as to what might happen with the heart surgery. Justine’s mother is also afraid that her family might blame her for going ahead with the heart surgery if anything bad were to happen to Justine in the hospital during the surgery. The family is hoping that the healing or the praying ceremony scheduled at the temple might work and cure Justine, and hopefully surgery might not be needed after all.
Mitochondria are organelles in cells that provide energy, and they have their own DNA. Sometimes, mitochondrial DNA has mutations in it, causing rare, deadly, and incurable diseases. Women who have defective mitochondria can pass these diseases onto their children, but mitochondrial replacement therapy allows these women to have healthy babies that are free from mitochondrial disease.
develops when clumps of abnormal proteins grow in the brain. It grows and grows but at a slow pace , overtime they add up until the brain cells becomes damaged and die. If you are concerned that you or any family member might have some of the symptoms you should talk to your family doctor. The symptoms that you should pay attention to should be:
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
Walton, Sir John. Brain’s Diseases of the Nervous System. 9th ed. Oxford University Press. Oxford: 1985.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
2 Brain death. In Wynngaarden JB, Smith LH, Bennet JC(eds): Cecil Textbook of Medicine, 20th edition. W B Saunders Company, 1996.
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
Kinney, H. C. Delayed Central Nervous System Mvelination in the Sudden Infant Death Syndrome. Journal of Neuropathology and Experimental Neurology. January 1991; 50(1):29-48.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.